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WTAP WT1 associated protein [ Homo sapiens (human) ]

Gene ID: 9589, updated on 21-Apr-2019

Summary

Official Symbol
WTAPprovided by HGNC
Official Full Name
WT1 associated proteinprovided by HGNC
Primary source
HGNC:HGNC:16846
See related
Ensembl:ENSG00000146457 MIM:605442
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Mum2
Summary
The Wilms tumor suppressor gene WT1 appears to play a role in both transcriptional and posttranscriptional regulation of certain cellular genes. This gene encodes a WT1-associating protein, which is a ubiquitously expressed nuclear protein. Like WT1 protein, this protein is localized throughout the nucleoplasm as well as in speckles and partially colocalizes with splicing factors. Alternative splicing of this gene results in several transcript variants encoding three different isoforms. [provided by RefSeq, Jul 2012]
Expression
Ubiquitous expression in bone marrow (RPKM 44.8), lymph node (RPKM 20.4) and 25 other tissues See more
Orthologs

Genomic context

See WTAP in Genome Data Viewer
Location:
6q25.3
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (159726696..159756319)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (160147712..160177351)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene superoxide dismutase 2 Neighboring gene heterogeneous nuclear ribonucleoprotein H1 pseudogene 1 Neighboring gene RNA, U4atac small nuclear 18, pseudogene Neighboring gene SOD2 overlapping transcript 1 Neighboring gene acetyl-CoA acetyltransferase 2 Neighboring gene small nucleolar RNA, H/ACA box 20 Neighboring gene t-complex 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
NHGRI GWA Catalog

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystem (from REACTOME)
    Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystemCo-transcriptional pre-mRNA splicing is not obligatory. Pre-mRNA splicing begins co-transcriptionally and often continues post-transcriptionally. Human genes contain an average of nine introns per ge...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3925, KIAA0105, DKFZp686F20131

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA metabolic process TAS
Traceable Author Statement
more info
 
RNA splicing IEA
Inferred from Electronic Annotation
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
mRNA methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
mRNA processing IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
regulation of alternative mRNA splicing, via spliceosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
RNA N6-methyladenosine methyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
pre-mRNA-splicing regulator WTAP
Names
PNAS-132
Wilms tumor 1 associated protein
Wilms' tumour 1-associating protein
female-lethal(2)D homolog
hFL(2)D
putative pre-mRNA splicing regulator female-lethal(2D)
wilms tumor 1-associating protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001270531.2NP_001257460.1  pre-mRNA-splicing regulator WTAP isoform 1

    See identical proteins and their annotated locations for NP_001257460.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 both encode the same isoform (1).
    Source sequence(s)
    AF374416, BC069192, BG702882, BX387163
    Consensus CDS
    CCDS5266.1
    UniProtKB/Swiss-Prot
    Q15007
    Related
    ENSP00000479438.1, ENST00000621533.5
    Conserved Domains (1) summary
    pfam17098
    Location:68222
    Wtap; WTAP/Mum2p family
  2. NM_001270532.1NP_001257461.1  pre-mRNA-splicing regulator WTAP isoform 3

    See identical proteins and their annotated locations for NP_001257461.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate 3' end sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1. Variants 5 and 6 both encode the same isoform (3).
    Source sequence(s)
    AA706250, BE906617, CN284477, D14661, DA138013
    Consensus CDS
    CCDS75542.1
    UniProtKB/Swiss-Prot
    Q15007
    UniProtKB/TrEMBL
    A0A087X1R4
    Related
    ENSP00000484404.1, ENST00000614346.4
    Conserved Domains (1) summary
    pfam17098
    Location:68150
    Wtap; WTAP/Mum2p family
  3. NM_001270533.1NP_001257462.1  pre-mRNA-splicing regulator WTAP isoform 3

    See identical proteins and their annotated locations for NP_001257462.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has an alternate 5' and 3' end sequences compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1. Variants 5 and 6 both encode the same isoform (3).
    Source sequence(s)
    AA706250, BG702882, BQ948913, D14661
    Consensus CDS
    CCDS75542.1
    UniProtKB/Swiss-Prot
    Q15007
    UniProtKB/TrEMBL
    A0A087X1R4
    Related
    ENSP00000487338.1, ENST00000631126.2
    Conserved Domains (1) summary
    pfam17098
    Location:68150
    Wtap; WTAP/Mum2p family
  4. NM_004906.4NP_004897.2  pre-mRNA-splicing regulator WTAP isoform 1

    See identical proteins and their annotated locations for NP_004897.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 4 both encode the same isoform (1).
    Source sequence(s)
    AF374416, BC069192, BE906617, DA138013
    Consensus CDS
    CCDS5266.1
    UniProtKB/Swiss-Prot
    Q15007
    Related
    ENSP00000351141.4, ENST00000358372.8
    Conserved Domains (1) summary
    pfam17098
    Location:68222
    Wtap; WTAP/Mum2p family
  5. NM_152857.2NP_690596.1  pre-mRNA-splicing regulator WTAP isoform 2

    See identical proteins and their annotated locations for NP_690596.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has alternate 5' and 3' end sequences compared to variant 1. Because of the frameshift and immediate translation termination, the resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).
    Source sequence(s)
    AA706250, BG702882, D14661
    Consensus CDS
    CCDS5267.1
    UniProtKB/Swiss-Prot
    Q15007
    Related
    ENSP00000336911.4, ENST00000337387.4
    Conserved Domains (1) summary
    pfam17098
    Location:68150
    Wtap; WTAP/Mum2p family
  6. NM_152858.2NP_690597.1  pre-mRNA-splicing regulator WTAP isoform 2

    See identical proteins and their annotated locations for NP_690597.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 3' end sequence compared to variant 1, that causes a frameshift and immediate translation termination. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).
    Source sequence(s)
    AA706250, BE906617, D14661, DA138013, DA561768
    Consensus CDS
    CCDS5267.1
    UniProtKB/Swiss-Prot
    Q15007
    Related
    ENSP00000497840.1, ENST00000650096.1
    Conserved Domains (1) summary
    pfam17098
    Location:68150
    Wtap; WTAP/Mum2p family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    159726696..159756319
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011514.2XP_016867003.1  pre-mRNA-splicing regulator WTAP isoform X1

  2. XM_017011516.2XP_016867005.1  pre-mRNA-splicing regulator WTAP isoform X4

  3. XM_024446597.1XP_024302365.1  pre-mRNA-splicing regulator WTAP isoform X2

    Conserved Domains (1) summary
    pfam17098
    Location:68222
    Wtap; WTAP/Mum2p family
  4. XM_017011515.1XP_016867004.1  pre-mRNA-splicing regulator WTAP isoform X3

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